Mamede de Carvalho is a medical doctor specialized in Neurology and Neurophysiology, with the highest degree (“Chefe de Serviço”) and working in the Neuroscience Department of the main University Hospital in Lisbon. Since 2010 he is full Professor of Physiology at the Faculty of Medicine in Lisbon. He is the head of the Neuromuscular Unit of his Hospital and of a research unit in the Instituto de Medicina Molecular. He is involved in investigating Amyotrophic Lateral Sclerosis, Familial Amyloid Polyneuropathy, Neurophysiology of the Respiratory Muscles, Exercise Training in ALS, Skin biopsy, Magnetic Stimulation and Laser Evoked Potentials. He has more than 200 papers published in International journals. He is in the editorial board of 4 international scientific journals.

I am a medical geneticist with 15 years of experience on this field, with main interest of the clinical and molecular characterization of families with neurologic – mainly neurodegenerative, neuromuscular and cognitive – disorders. I carry out genetic analyses and give genetic counselling to patients and families. I teach human genetics at the Faculty of Medicine, University of Lisbon. I am participating as a colleague of Professor Mamede de Carvalho, leading neurologist of Project MinE in Portugal. At the Portuguese site I am responsible for the sample collection, sample storage, genetic analyses, result interpretation and genetic counselling of patients and families.